Literature DB >> 30932026

A duty to recontact in genetics: context matters.

Noor A A Giesbertz1, Wim H van Harten2, Annelien L Bredenoord3.   

Abstract

Entities:  

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Year:  2019        PMID： 30932026     DOI： 10.1038/s41576-019-0121-7

Source DB:  PubMed          Journal:  Nat Rev Genet        ISSN： 1471-0056            Impact factor:   53.242


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  1 in total

1.  Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).

Authors:  Karen L David; Robert G Best; Leslie Manace Brenman; Lynn Bush; Joshua L Deignan; David Flannery; Jodi D Hoffman; Ingrid Holm; David T Miller; James O'Leary; Reed E Pyeritz
Journal:  Genet Med       Date:  2018-12-22       Impact factor: 8.822
  1 in total
  8 in total

1.  Reanalysis of exome negative patients with rare disease: a pragmatic workflow for diagnostic applications.

Authors:  Gaby Schobers; Jolanda H Schieving; Michèl A A P Willemsen; Lisenka E L M Vissers; Helger G Yntema; Maartje Pennings; Rolph Pfundt; Ronny Derks; Tom Hofste; Ilse de Wijs; Nienke Wieskamp; Simone van den Heuvel; Jordi Corominas Galbany; Christian Gilissen; Marcel Nelen; Han G Brunner; Tjitske Kleefstra; Erik-Jan Kamsteeg
Journal:  Genome Med       Date:  2022-06-17       Impact factor: 15.266

2.  "I wish that there was more info": characterizing the uncertainty experienced by carriers of pathogenic ATM and/or CHEK2 variants.

Authors:  Kathryn G Reyes; Cheyla Clark; Meredith Gerhart; Ainsley J Newson; Kelly E Ormond
Journal:  Fam Cancer       Date:  2021-04-15       Impact factor: 2.375

3.  Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists.

Authors:  Julia El Mecky; Lennart Johansson; Mirjam Plantinga; Angela Fenwick; Anneke Lucassen; Trijnie Dijkhuizen; Annemieke van der Hout; Kate Lyle; Irene van Langen
Journal:  BMC Med Genomics       Date:  2019-11-29       Impact factor: 3.063

4.  Recontacting non-BRCA1/2 breast cancer patients for germline CHEK2 c.1100del pathogenic variant testing: uptake and patient experiences.

Authors:  Mary E Velthuizen; Rob B van der Luijt; Beja J de Vries; Marco J Koudijs; Eveline M A Bleiker; Margreet G E M Ausems
Journal:  Hered Cancer Clin Pract       Date:  2021-01-19       Impact factor: 2.857

5.  Uptake and Patient Perspectives on Additional Testing for Novel Disease-Associated Genes: Lessons from a PAH Cohort.

Authors:  Samara M A Jansen; Lieke M van de Heuvel; Arjan C Houweling; J Peter van Tintelen; Frances S de Man; Anton Vonk Noordegraaf; Harm Jan Bogaard
Journal:  Genes (Basel)       Date:  2021-09-28       Impact factor: 4.096

6.  Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.

Authors:  Ramon Brugada; Oscar Campuzano; Georgia Sarquella-Brugada; Anna Fernandez-Falgueras; Sergi Cesar; Elena Arbelo; Mónica Coll; Alexandra Perez-Serra; Marta Puigmulé; Anna Iglesias; Mireia Alcalde; Marta Vallverdú-Prats; Victoria Fiol; Carles Ferrer-Costa; Bernat Del Olmo; Ferran Picó; Laura Lopez; Ana García-Alvarez; Paloma Jordà; Coloma Tiron de Llano; Rocío Toro; Simone Grassi; Antonio Oliva; Josep Brugada
Journal:  Hum Genet       Date:  2021-09-21       Impact factor: 5.881

7.  Genomic medicine and the "loss of chance" medical malpractice doctrine.

Authors:  Jennifer K Wagner; Michelle N Meyer
Journal:  HGG Adv       Date:  2021-04-05

8.  Preferences for return of germline genome sequencing results for cancer patients and their genetic relatives in a research setting.

Authors:  Megan C Best; Phyllis Butow; Jacqueline Savard; Chris Jacobs; Nicole Bartley; Grace Davies; Christine E Napier; Mandy L Ballinger; David M Thomas; Barbara Biesecker; Katherine M Tucker; Ilona Juraskova; Bettina Meiser; Timothy Schlub; Ainsley J Newson
Journal:  Eur J Hum Genet       Date:  2022-03-11       Impact factor: 5.351
  8 in total

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